Search Results
News Release
NHGRI researchers have developed the Families Sharing Health Assessment and Risk Evaluation (SHARE) workbook, which helps people use their family history to assess their risk for heart disease, diabetes, breast cancer and colorectal cancer.
… to assess their risk for heart disease, diabetes, breast cancer and colorectal cancer. Since 2012, Laura Koehly, Ph.D., and her research … Research Branch at NHGRI and senior author of the study. In a recent study in the journal Public Health Genomics , the …
Event
Annual scientific lecture honoring NHGRI's founding scientific director, Jeffrey M. Trent, Ph.D.
… of Medicine, delivered the lecture Evolution of Germline Cancer Genomics from Rare Disorders to Precision Oncology … Research presented the 15th Jeffrey M. Trent Lecture in Cancer Research on June 14, 2019, 2:00 - 3:00 p.m., at the …
Policy Issues
Genome editing is currently being applied to research on cancer, mental health, rare diseases, and many other disease areas.
… Genome editing is currently being applied to research on cancer, mental health, rare diseases, and many other disease … funded by NHGRI or other NIH Institutes takes place in the petri dish and in nonhuman organisms such as mice or … editing as a treatment for disease. Many diseases from cancer to asthma have genetic bases. Through the application …
News Release
Researchers identified regions of the genome associated with skin color variation in some African populations, furthering skin disease and cancer research.
… Jeannine Mjoseth … In the first study of its kind, an international team of … opening new avenues for research on skin diseases and cancer in all populations. … These findings may help … from these regions is thought to reduce skin damage and cancer. In contrast, lighter pigmentation of people in …
Genetic Disorders
WAGR syndrome is a genetic condition caused by a deletion of genes located on chromosome 11, often causing eye problems and increased risk of cancer in babies.
… and are at high risk for developing certain types of cancer, and mental disability. … WAGR syndrome is a rare … and are at high risk for developing certain types of cancer, and mental disability. The term "WAGR" stands for the … (W)ilms' Tumor, the most common form of kidney cancer in children. (A)niridia, some or complete absence of the …
News Release
NHGRI researchers have identified new genes associated with the Erdheim-Chester disease (ECD) and some possible new therapies.
… new therapies. Findings on this ultra-rare disease, found in approximately 600 people in the world, were published in … V600E gene mutations, which is sometimes seen in colon cancer, lung cancer, thyroid cancer, brain tumors and some blood cancers. …
News Release
NIH grants aim to gauge if genomics can be used to help diagnose diabetes, manage heart disease and guide cancer clinicians to the most effective drugs.
… keep heart disease patients out of hospitals and guide cancer clinicians and patients to the most effective drugs. … … than $11 million, are part of the Implementing Genomics in Practice (IGNITE) program administered by the National … on genomically guided prescriptions of cardiovascular and cancer drugs. David Flockhart, M.D. , Ph.D. , Indiana …
Profile
Dr. Joan Bailey-Wilson, who retired in September 2022, looks back on her 42-year career as a scientist and reflects on the rapid growth of the genomics field.
… I remember thinking I really loved science was when I was in the first grade. I did a demonstration for the parents … Early in my career, I was involved in breast cancer risk modeling that led to Mary-Claire King discovering … with Henry Lynch to find genes associated with colorectal cancer.  At the time, there was huge controversy on the …
Staff
Dr. Lawrence Brody is a senior investigator in NHGRI's Social and Behavioral Research Branch and director of NHGRI's Division of Genomics and Society.
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… inherited components of human disease. He is interested in studying genetic mutations that lead to perturbations in normal metabolic pathways and cause disorders such as cancer and birth defects. His laboratory focuses on … variants of this type, such as those in known breast cancer-linked genes, are of great medical importance. The …
Staff
Dr. Heidi Sofia served as a program director in the Division of Genomic Medicine at the National Human Genome Research Institute from 2010-2023.
… Dr. Heidi Sofia joined NHGRI in 2010 as part of the team responsible for The Cancer Genome Atlas (TCGA) initiative in cancer genomics, jointly managed by NHGRI and the National …